R104T (p.Arg104Thr) variant of RINL (Q6ZS11)
R104T (p.Arg104Thr) in RINL (Q6ZS11) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R104T (p.Arg104Thr) variant details
- p.Arg104Thr
- TOPMed rs1211711833
- gnomAD rs1211711833
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available